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Neu Laxova syndrome in two Egyptian families
- Source :
- American Journal of Medical Genetics. 41:30-31
- Publication Year :
- 1991
- Publisher :
- Wiley, 1991.
-
Abstract
- We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.
- Subjects :
- Male
Microcephaly
medicine.medical_specialty
Ichthyotic skin
Generalized edema
Consanguinity
Pregnancy
medicine
Humans
Neu-Laxova syndrome
Abnormalities, Multiple
Genetics (clinical)
Muscle contracture
Unusual facial appearance
Fetal Growth Retardation
Ichthyosis
business.industry
Infant, Newborn
medicine.disease
Dermatology
Face
Egypt
Female
Joints
business
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 41
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....ce09e6a824249601a57538d15ca3d8f0
- Full Text :
- https://doi.org/10.1002/ajmg.1320410109